The 57 kb deletion in cystinosis patients extends into TRPV1 causing dysregulation of transcription in peripheral blood mononuclear cells

Cystinosis is a debilitating, potentially fatal, inherited metabolic disease. The major genetic defect is a large (57-kb) deletion on chromosome 17 that removes the majority of a cystine transporter gene (CTNS). To find other genes that may also play a role in cystinosis, we collected blood cells from cystinosis families and examined the level of […]

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Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways

The manuscript by Girotto et al. describes the discovery of new genes and pathways that underlie normal hearing function. The strategy applied combines the power of studying isolated populations with a) a general screening of hearing function, b) high-throughput SNP analysis, c) Genome Wide Association Studies (GWAS), and d) up-to-date in silico pathways construction. Data […]

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Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: what are the issues?

Developmental delay, learning difficulties, behavioural abnormalities and birth defects are often caused by gains or losses of genetic material.  Array comparative genomic hybridisation (aCGH) is a new technology which is more sensitive than previous technologies, and therefore detects these causative changes and provides a diagnosis in more patients than was previously possible.  However, a(CGH) may […]

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Call for Abstracts/Papers, Fourth Summit on Systems Biology, June 15-17, Richmond, Virginia, USA

Summit on Systems Biology 2011 Molecular Networks and Disease June 15-17, 2011 at the Jefferson Hotel in Richmond, Virginia http://www.vcu.edu/csbc/systemsbiologysummit/ The overarching goal of this summit is to bring together key individuals applying systems approaches to research in molecular medicine and its application to the diagnosis or treatment of disease and to encourage discussion and […]

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C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

Sensenbrenner syndrome is a rare inherited disorder with dysmorphic symptoms. Prominently, the skeleton, nails, teeth, and hair are affected. This can be accompanied by chronic kidney disease, retinal degeneration, and other features. Sensenbrenner syndrome results from dysfunction of the cilium, a protrusion of the cell surface that somewhat resembles an antenna, also regarding its sensory […]

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CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype

CHARGE syndrome involves multiple congenital anomalies caused by mutations in the CHD7 gene. In our study, we evaluated the clinical characteristics of 280 patients with CHD7 mutations and confirmed that the clinical presentation is highly variable. Even family members, who all had the same mutation, were variably affected. We also report some individuals who have […]

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